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Cellosaurus PG2-iPS-1 (CVCL_L668)

[Text version]
Cell line name PG2-iPS-1
Synonyms PG2-IPS-1; PG2-iPSC_HGPS
Accession CVCL_L668
Resource Identification Initiative To cite this cell line use: PG2-iPS-1 (RRID:CVCL_L668)
Comments From: A*STAR Institute of Medical Biology; Singapore; Singapore.
Population: Caucasian.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (from parent cell line).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_H765 (AG06297)
Sex of cell Male
Age at sampling 8Y2M
Category Induced pluripotent stem cell
Publications

PubMed=21185252; DOI=10.1016/j.stem.2010.12.002
Zhang J.-Q., Lian Q.-Z., Zhu G.-L., Zhou F., Sui L., Tan C., Mutalif R.A., Navasankari R., Zhang Y.-L., Tse H.-F., Stewart C.L., Colman A.
A human iPSC model of Hutchinson Gilford progeria reveals vascular smooth muscle and mesenchymal stem cell defects.
Cell Stem Cell 8:31-45(2011)

Cross-references
Cell line databases/resources SKIP; SKIP003113
Encyclopedic resources Wikidata; Q54947321
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number18